PIK3CA hotspot mutation
Детермінований перегляд YAML-сутності з джерельної бази. Клінічний авторитет лишається за вказаними source ID та статусом клінічного sign-off.
| ID | BIO-PIK3CA-MUTATION |
|---|---|
| Тип | Біомаркер |
| Синоніми | Гарячі мутації PIK3CA |
| Статус | очікує клінічного підпису |
| Хвороби | Не вказано |
| Джерела | Не вказано |
Дані про біомаркер
| Тип біомаркера | gene_mutation |
|---|---|
| Деталі мутації | {"functional_impact": "PI3K-alpha pathway activation", "gene": "PIK3CA", "hotspots": ["E542K", "E545K", "H1047R", "H1047L"], "type": "activating missense"} |
| Вимірювання | MethodTumor-tissue NGS panel OR plasma ctDNA NGS — both ASCO/CAP-acceptable Sensitivity requirementVAF detection threshold ≥1% recommended for ctDNA |
| Пов’язані біомаркери | Не вказано |
Нотатки
Companion diagnostic for alpelisib. Tissue + ctDNA both acceptable; ctDNA preferred when fresh tissue unavailable. UA-availability of alpelisib gates the clinical actionability.
Де використовується
Diseases
DIS-HNSCC- Head and neck squamous cell carcinoma (HNSCC)DIS-SALIVARY- Salivary gland carcinoma
Indications
IND-BREAST-HR-POS-1L-INAVOLISIB- IND-BREAST-HR-POS-1L-INAVOLISIBIND-BREAST-HR-POS-2L-AKT-CAPIVASERTIB- IND-BREAST-HR-POS-2L-AKT-CAPIVASERTIBIND-BREAST-HR-POS-2L-PIK3CA-ALPELISIB- IND-BREAST-HR-POS-2L-PIK3CA-ALPELISIB
Questionnaires
QUEST-BREAST-1L-STUB- Invasive breast cancer — first line
Tests
TEST-PIK3CA-NGS- PIK3CA mutation testing (tumor or ctDNA)
Біомаркер
BIO-AKT1- AKT1 E17K mutationBIO-ESR1- ESR1 mutation (ligand-binding domain)BIO-PIK3CA-H1047R- PIK3CA H1047R mutationBIO-PTEN- PTEN loss-of-function
Клінічна застосовність
BMA-PIK3CA-E542K-BREAST- PIK3CA hotspot mutations (~40% of HR+/HER2- metastatic breast cancer): alpelisib + fulves...BMA-PIK3CA-E545K-BREAST- PIK3CA hotspot mutations (~40% of HR+/HER2- metastatic breast cancer): alpelisib + fulves...BMA-PIK3CA-EXON20-BREAST- PIK3CA hotspot mutations (~40% of HR+/HER2- metastatic breast cancer): alpelisib + fulves...BMA-PIK3CA-EXON9-BREAST- PIK3CA hotspot mutations (~40% of HR+/HER2- metastatic breast cancer): alpelisib + fulves...BMA-PIK3CA-H1047L-BREAST- PIK3CA hotspot mutations (~40% of HR+/HER2- metastatic breast cancer): alpelisib + fulves...BMA-PIK3CA-H1047R-BREAST- PIK3CA hotspot mutations (~40% of HR+/HER2- metastatic breast cancer): alpelisib + fulves...BMA-PIK3CA-HOTSPOT-CERVICAL- PIK3CA mutations occur in ~30% of squamous cervical cancers. No PI3Ki/AKTi approval in ce...BMA-PIK3CA-HOTSPOT-ENDOMETRIAL- PIK3CA mutations occur in ~30-50% of endometrioid endometrial cancers, often co-occurring...BMA-PIK3CA-HOTSPOT-ESOPHAGEAL- PIK3CA mutations in ~10% of esophageal SCC/AC. No PI3Ki approval; CRT or chemo/ICI per us...BMA-PIK3CA-HOTSPOT-GASTRIC- PIK3CA mutations in ~10% of gastric/GEJ adenocarcinoma. No PI3Ki/AKTi approval; trastuzum...BMA-PIK3CA-HOTSPOT-HCC- PIK3CA in HCC — no targeted approval; atezolizumab + bevacizumab / lenvatinib per usual a...BMA-PIK3CA-HOTSPOT-NSCLC- PIK3CA mutations in ~5% of NSCLC squamous; no approved targeted therapy.BMA-PIK3CA-HOTSPOT-PROSTATE- PIK3CA mutations rare in prostate (~5%); PI3K/AKT/mTOR pathway often activated via PTEN l...BMA-PIK3CA-HOTSPOT-RCC- PIK3CA mutations rare in RCC; mTORi (everolimus, temsirolimus) approved 2L+ regardless of...BMA-PIK3CA-HOTSPOT-UROTHELIAL- PIK3CA mutations in ~20% of muscle-invasive bladder. No PI3Ki approval; FGFR3-driven (erd...
Тривожна ознака
RF-BREAST-HIGH-RISK-BIOLOGY- Germline or somatic BRCA1/2 mutation, PIK3CA mutation, ESR1 mutation, HER2-amplification,...RF-SALIVARY-HIGH-RISK-BIOLOGY- Salivary gland carcinoma with actionable molecular driver: ETV6-NTRK3 fusion (mammary ana...